Varaico: Literature-Extracted Genetic Variants

Gene:RHCE
Variant:p.V314A
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RHCE

NM_020485.8:p.V314A

Associated Papers

First investigation of RH gene polymorphism in patients with sickle cell disease and associated blood donors in Cameroon, Central Africa.

Mbeti JMM et al.

Blood Transfusion = Trasfusione Del Sangue, 2024

Machine learning to optimize automated RH genotyping using whole-exome sequencing data.

Chang TC et al.

Blood Advances, 2024

38522094 (PubMed )
Supplement: BLOODA_ADV-2023-011660-mmc1.xlsx › Rh

Variant genotypes associated with reduced expression of RhCE antigens among Brazilian blood donors.

Dezan MR et al.

Transfusion, 2021

A novel algorithm comprehensively characterizes human RH genes using whole-genome sequencing data.

Chang TC et al.

Blood Advances, 2020

Whole-exome sequencing for RH genotyping and alloimmunization risk in children with sickle cell anemia.

Chou ST et al.

Blood Advances, 2017

Benchmarking of Whole Exome Sequencing and Ad Hoc Designed Panels for Genetic Testing of Hereditary Cancer.

Feliubadaló L et al.

Scientific Reports, 2017

28050010 (PubMed )
Supplement: srep37984-s2.xls › Exome_geMODERATE_variants

RHCE*ceAG (254C>G, Ala85Gly) is prevalent in blacks, encodes a partial ce-phenotype, and is associated with discordant RHD zygosity.

Westhoff CM et al.

Transfusion, 2015

Analysis of RhCE variants among 806 individuals in France: considerations for transfusion safety, with emphasis on patients with sickle cell disease.

Pham BN et al.

Transfusion, 2011

A novel RHCE*ce 48C, 733G allele with Nucleotide 941C in Exon 7 encodes an altered red blood cell e antigen.

Hue-Roye K et al.

Transfusion, 2011

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."